Canonical Allele Identifier: CA913657350

Gene:

Linked Data

• dbSNP Id: rs1565391885
• gnomAD v2: 11-116313541-G-T
• gnomAD v3: 11-116442824-G-T
• gnomAD v4: 11-116442824-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116442824G>T , CM000673.2:g.116442824G>T	GRCh38
NC_000011.9:g.116313541G>T , CM000673.1:g.116313541G>T	GRCh37
NC_000011.8:g.115818751G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001748403.1:n.349+31053C>A